Ghezzi, 2015: Overview of all reported PxMD-PNKD patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
1
|
n.a.
|
n.a.
|
Speech disturbance
Dystonia Attacks – bilateral Chorea Trigger: Stress Attacks at rest Trigger: Caffeine Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
7
|
n.a.
|
n.a.
|
||
No
|
♂
|
n.a.
|
n.a.
|
15
|
n.a.
|
n.a.
|
Speech disturbance
Trigger: Stress Attacks at rest Athetosis Trigger: Alcohol Chorea Attacks – bilateral Trigger: Caffeine Show more (+5) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
1
|
n.a.
|
n.a.
|
Attacks - face
Attacks at rest Attacks - neck Trigger: Caffeine Attacks – bilateral Dystonia Athetosis Trigger: Stress Chorea Show more (+6) |
n.a.
|